The c.1077G>A (p.Trp359Ter) variant in GP1BA is a nonsense variant that may cause loss of function of the protein, however it is predicted to escape nonsense mediated decay and remove >10% of the protein (PVS1_Strong). At least one patient (Proband in PMID: 2308962) with this variant had absent expression of GPIba measured by flow cytometry or Western blot, which is highly specific for Bernard-Soulier syndrome. Additionally, the patient had excessive mucocutaneous bleeding and macrothrombocytopenia which are consistent with Bernard-Soulier syndrome (PP4). The variant has been reported to segregate in the proband plus 2 heterozygous children and the heterozygous mother, all had significantly reduced surface expression of GP1BA (PP1). The largest MAF allele frequency in gnomAD v4.0.1 is 0.0000008476 (based on 1/1179860 alleles) in the European (non-Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.0001114; PM2_Supporting). In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive Bernard-Soulier syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1_Strong, PP4, PP1, and PM2_Supporting (VCEP specifications version 1.1).